Canonical Allele Identifier: CA2768529364
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057097C>A , CM000667.2:g.136057097C>A GRCh38
NC_000005.9:g.135392786C>A , CM000667.1:g.135392786C>A GRCh37
NC_000005.8:g.135420685C>A NCBI36
NG_012646.1:g.33203C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+302C>A MANE Select ENSP00000416330.2:n.1678+302C>A
ENST00000442011.6:c.1678+302C>A ENSP00000416330.2:n.1678+302C>A
ENST00000506699.5:n.2195+302C>A
ENST00000507018.5:c.1656+302C>A
ENST00000509485.5:c.675+302C>A
ENST00000514242.5:n.449+302C>A
ENST00000514554.5:c.830+302C>A
NM_000358.2:c.1678+302C>A NP_000349.1:n.1678+302C>A
NM_000358.3:c.1678+302C>A MANE Select NP_000349.1:n.1678+302C>A
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